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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-54198355-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54198355&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 54198355,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000354646.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile",
"transcript": "ENST00000354646.7",
"protein_id": "ENSP00000346667.2",
"transcript_support_level": 1,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5852,
"cdna_end": null,
"cdna_length": 11384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile",
"transcript": "NM_020922.5",
"protein_id": "NP_065973.2",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5852,
"cdna_end": null,
"cdna_length": 11384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "NM_001002838.4",
"protein_id": "NP_001002838.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5681,
"cdna_end": null,
"cdna_length": 11213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "NM_001395166.1",
"protein_id": "NP_001382095.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5568,
"cdna_end": null,
"cdna_length": 11100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "ENST00000375169.7",
"protein_id": "ENSP00000364312.3",
"transcript_support_level": 5,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5640,
"cdna_end": null,
"cdna_length": 11172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile",
"transcript": "XM_017029741.2",
"protein_id": "XP_016885230.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5739,
"cdna_end": null,
"cdna_length": 11271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile",
"transcript": "XM_017029742.2",
"protein_id": "XP_016885231.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5816,
"cdna_end": null,
"cdna_length": 11348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile",
"transcript": "XM_017029743.2",
"protein_id": "XP_016885232.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5731,
"cdna_end": null,
"cdna_length": 11263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile",
"transcript": "XM_017029744.2",
"protein_id": "XP_016885233.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5709,
"cdna_end": null,
"cdna_length": 11241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5342A>T",
"hgvs_p": "p.Asn1781Ile",
"transcript": "XM_017029745.2",
"protein_id": "XP_016885234.1",
"transcript_support_level": null,
"aa_start": 1781,
"aa_end": null,
"aa_length": 1790,
"cds_start": 5342,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 5709,
"cdna_end": null,
"cdna_length": 11241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5231A>T",
"hgvs_p": "p.Asn1744Ile",
"transcript": "XM_011530802.3",
"protein_id": "XP_011529104.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5231,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5598,
"cdna_end": null,
"cdna_length": 11130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5231A>T",
"hgvs_p": "p.Asn1744Ile",
"transcript": "XM_047442376.1",
"protein_id": "XP_047298332.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5231,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5675,
"cdna_end": null,
"cdna_length": 11207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5231A>T",
"hgvs_p": "p.Asn1744Ile",
"transcript": "XM_047442377.1",
"protein_id": "XP_047298333.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5231,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5711,
"cdna_end": null,
"cdna_length": 11243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5231A>T",
"hgvs_p": "p.Asn1744Ile",
"transcript": "XM_047442378.1",
"protein_id": "XP_047298334.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5231,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 11122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5231A>T",
"hgvs_p": "p.Asn1744Ile",
"transcript": "XM_047442379.1",
"protein_id": "XP_047298335.1",
"transcript_support_level": null,
"aa_start": 1744,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5231,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5568,
"cdna_end": null,
"cdna_length": 11100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "XM_047442380.1",
"protein_id": "XP_047298336.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5645,
"cdna_end": null,
"cdna_length": 11177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "XM_047442381.1",
"protein_id": "XP_047298337.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5560,
"cdna_end": null,
"cdna_length": 11092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "XM_047442382.1",
"protein_id": "XP_047298338.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5678,
"cdna_end": null,
"cdna_length": 11210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.5201A>T",
"hgvs_p": "p.Asn1734Ile",
"transcript": "XM_047442383.1",
"protein_id": "XP_047298339.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"dbsnp": "rs1173270244",
"frequency_reference_population": 9.144429e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.14443e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44463902711868286,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.1779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.58,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354646.7",
"gene_symbol": "WNK3",
"hgnc_id": 14543,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.5372A>T",
"hgvs_p": "p.Asn1791Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}